Synonym(s)
EC 1.5.1.2; P5C Reductase 1; Proliferation-Inducing Protein 45; Pyrroline-5-carboxylate reductase 1, mitochondrial; Pyrroline-5-carboxylates reductase1
DefinitionThis section has been translated automatically.
PYCR1 is a protein coding gene located on chromosome 17q25.3. The PYCR1 gene encodes an enzyme, a reductase, which is a homopolymer located in mitochondria.
The enzyme catalyses an NAD (P) H-dependent conversion of pyrroline-5-carboxylate to proline. PYCR1 may also play a physiological role in the production of NADP (+) in some cell types. Alternative splicing leads to several transcript variants. An important paralogue of this gene is PYCR2.
The pyrroline-5-carboxylate reductase1 is a "housekeeping enzyme" that catalyses the final step of proline biosynthesis. It is involved in the cellular response to oxidative stress.
Clinical pictureThis section has been translated automatically.
Diseases associated with PYCR1 include:
- Cutis laxa, autosomal recessive, type 2B (The clinical spectrum of autosomal recessive cutis laxa is very heterogeneous in terms of organ involvement and severity. Autosomal recessive cutis laxa, type 2B is clinically characterized by prognathism, elongated face, osteopenia, and cutis laxa on the dorsum of the hands and feet. Pulmonary emphysema, common in other cutis laxa variants, is absent. Patients with PYCR1 mutations are usually severely mentally retarded (Yildirim Y et al 2010).
- Cutis laxa, autosomal recessive, type 3B (Reversade B et al. 2009).
Prof. Dr. med. Peter Altmeyer